ClinVar Miner

List of variants in gene combination LOC126807094, PRDM8 reported as uncertain significance for early-onset Lafora body disease

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001099403.2(PRDM8):c.329G>C (p.Gly110Ala) rs200777615 0.00030
NM_001099403.2(PRDM8):c.378A>T (p.Leu126Phe) rs747752546 0.00004
NM_001099403.2(PRDM8):c.269G>A (p.Arg90Gln) rs748762942 0.00002
NM_001099403.2(PRDM8):c.373G>A (p.Glu125Lys) rs1162839638 0.00002
NM_001099403.2(PRDM8):c.412C>T (p.Leu138Phe) rs775975261 0.00002
NM_001099403.2(PRDM8):c.232G>A (p.Ala78Thr) rs974078652 0.00001
NM_001099403.2(PRDM8):c.260T>C (p.Met87Thr) rs1214957885 0.00001
NM_001099403.2(PRDM8):c.296A>G (p.Glu99Gly) rs943924560 0.00001
NM_001099403.2(PRDM8):c.404C>T (p.Thr135Ile) rs746198786 0.00001
NM_001099403.2(PRDM8):c.428C>T (p.Ser143Phe) rs1319426778 0.00001
NM_001099403.2(PRDM8):c.488G>A (p.Arg163His) rs1191039908 0.00001
NM_001099403.2(PRDM8):c.514G>A (p.Ala172Thr) rs762974864 0.00001
NM_001099403.2(PRDM8):c.543A>T (p.Arg181Ser) rs377755509 0.00001
NM_001099403.2(PRDM8):c.224A>T (p.Asp75Val) rs2109876937
NM_001099403.2(PRDM8):c.250G>A (p.Glu84Lys) rs1738421294
NM_001099403.2(PRDM8):c.259A>G (p.Met87Val)
NM_001099403.2(PRDM8):c.328G>A (p.Gly110Arg) rs199746703
NM_001099403.2(PRDM8):c.331C>G (p.Gln111Glu)
NM_001099403.2(PRDM8):c.424C>T (p.Pro142Ser)
NM_001099403.2(PRDM8):c.441_444del (p.Asn147fs) rs2109877216
NM_001099403.2(PRDM8):c.502T>C (p.Phe168Leu)
NM_001099403.2(PRDM8):c.506C>T (p.Pro169Leu) rs775462847
NM_001099403.2(PRDM8):c.532T>C (p.Cys178Arg) rs2109877963
NM_001099403.2(PRDM8):c.552C>A (p.Ser184Arg) rs767040118
NM_001099403.2(PRDM8):c.556G>C (p.Asp186His)
NM_001099403.2(PRDM8):c.560T>C (p.Ile187Thr) rs1191905970

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